A research team led by Dr. Damaris Lorenzo, Assistant Professor in the UNC Department of Cell Biology and Physiology and member of the Neuroscience Center, discovered a new neurodevelopmental syndrome that is caused by pathogenic variants in the SPTBN1 gene which encodes neuronal βII-spectrin.
The pathogenic variants in SPTBN1 effect βII-spectrin stability, disrupt binding to key molecular partners and disturb cytoskeleton organization and dynamics in the brain. The impactful work by Dr. Lorenzo and colleagues was recently published in Nature Genetics and highlighted in the UNC news and is a wonderful representation of collaborative team science. Several UNC collaborators and core facilities contributed to this work including Dr. Sherly Moy, Professor of Psychiatry, and the Mouse Behavioral Phenotyping (MBP) Core and Dr. Adriana Beltran, Associate Professor in Genetics, and the Human Pluripotent Cell (HPSC) Core. Dr. Lorenzo will continue her collaboration with Dr. Beltran and the HPSC core to “use neurons differentiated from patient-derived induced pluripotent stem cells to learn more about the affected molecular and cellular mechanisms and brain circuits, and evaluate strategies for potential clinical interventions”.